view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNC5A_chr5_176805559_176885898 | 176826636 | CTTTTT | C | intron_variant | MODIFIER | HG01106.hp1 HG02300.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0064 a0001c0001t0002g0062 a0001c0001t0002g0063 others(2): Show |
5 | 33 | 0.1515 | -5 | c.70+ others(22): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
UNC5B_chr10_71207570_71307864 | 71282240 | CAGAAG | C | intron_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG02818.hp2 others(5): Show |
a0001a0006 | a0001c0003a0006c0013 | a0001c0003t0007a0001c0003t0011a0001c0003t0024others(3): Show | a0001c0003t0007g0105 a0001c0003t0007g0357 a0001c0003t0011g0054 others(5): Show |
8 | 366 | 0.0219 | -5 | c.304 others(22): Show |
UNC5B | ENSG00000107731.12 | transcript | ENST00000335350.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95160500 | TCTTTC | T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0010a0001c0012a0001c0021 | a0001c0010t0006a0001c0010t0010a0001c0012t0006others(1): Show | a0001c0010t0006g0002 a0001c0010t0006g0074 a0001c0010t0010g0001 others(4): Show |
7 | 204 | 0.0343 | -5 | c.*87 others(16): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 2003 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95172247 | GATCCC | G | intron_variant | MODIFIER | HG02055.hp2 HG03041.hp2 HG03486.hp1 |
a0001 | a0001c0004a0001c0010a0001c0019 | a0001c0004t0010a0001c0010t0010a0001c0019t0010 | a0001c0004t0010g0155 a0001c0010t0010g0001 a0001c0019t0010g0055 |
3 | 204 | 0.0147 | -5 | c.245 others(24): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 14/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95229797 | CTTTTT | C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0009a0001c0010a0001c0011others(2): Show | a0001c0009t0035a0001c0010t0006a0001c0011t0003others(4): Show | a0001c0009t0035g0181 a0001c0010t0006g0002 a0001c0011t0003g0182 others(4): Show |
7 | 111 | 0.0631 | -5 | c.110 others(24): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95232272 | CATATT | C | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0011a0001c0014 | a0001c0011t0003a0001c0011t0004a0001c0014t0004others(1): Show | a0001c0011t0003g0182 a0001c0011t0004g0047 a0001c0011t0004g0066 others(2): Show |
5 | 204 | 0.0245 | -5 | c.110 others(26): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95258746 | CTTTTT | C | intron_variant | MODIFIER | HG01169.hp1 HG01192.hp2 HG02257.hp1 others(15): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0010others(7): Show | a0001c0004t0038a0001c0005t0001a0001c0010t0006others(11): Show | a0001c0004t0038g0173 a0001c0005t0001g0043 a0001c0010t0006g0002 others(15): Show |
18 | 122 | 0.1475 | -5 | c.595 others(22): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95307119 | ATAACT | A | intron_variant | MODIFIER | HG02280.hp2 HG06807.hp1 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0013a0001c0010t0014 | a0001c0003t0013g0078 a0001c0010t0014g0186 |
2 | 204 | 0.0098 | -5 | c.347 others(22): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95328040 | CTTTTT | C | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02280.hp1 others(16): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0010others(3): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(10): Show | a0001c0003t0001g0031 a0001c0003t0001g0046 a0001c0003t0001g0111 others(16): Show |
19 | 71 | 0.2676 | -5 | c.346 others(22): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95339871 | ATTAAC | A | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0010others(1): Show | a0001c0003t0001a0001c0003t0013a0001c0004t0038others(3): Show | a0001c0003t0001g0059 a0001c0003t0001g0184 a0001c0003t0013g0057 others(5): Show |
8 | 105 | 0.0762 | -5 | c.125 others(22): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95363572 | TAAAAG | T | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0003a0001c0010a0001c0014 | a0001c0003t0001a0001c0003t0013a0001c0010t0006others(2): Show | a0001c0003t0001g0184 a0001c0003t0013g0057 a0001c0010t0006g0002 others(3): Show |
6 | 204 | 0.0294 | -5 | c.125 others(24): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95392323 | ATAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(36): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0013others(24): Show | a0001c0003t0001g0031 a0001c0003t0001g0111 a0001c0003t0003g0191 others(36): Show |
39 | 204 | 0.1912 | -5 | c.125 others(24): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95473547 | TTACAA | T | intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG01109.hp1 others(13): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0010others(7): Show | a0001c0004t0001a0001c0004t0023a0001c0005t0001others(10): Show | a0001c0004t0001g0148 a0001c0004t0023g0187 a0001c0005t0001g0087 others(13): Show |
16 | 204 | 0.0784 | -5 | c.124 others(24): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5C_chr4_95157504_95553973 | 95486199 | TTATTA | T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0188 a0001c0015t0003g0189 |
2 | 204 | 0.0098 | -5 | c.124 others(24): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35409593 | TTTTGC | T | intron_variant | MODIFIER | HG01123.hp1 HG02976.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0013others(1): Show | a0001c0001t0001g0061 a0001c0002t0001g0020 a0001c0002t0013g0062 others(1): Show |
4 | 64 | 0.0625 | -5 | c.104 others(26): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35431642 | CTTATT | C | intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0006a0001c0004t0022others(1): Show | a0001c0001t0002g0029 a0001c0002t0006g0055 a0001c0004t0022g0050 others(1): Show |
4 | 64 | 0.0625 | -5 | c.104 others(26): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35462588 | TAACTC | T | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0021a0001c0001t0025others(5): Show | a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0021g0009 others(6): Show |
9 | 64 | 0.1406 | -5 | c.104 others(24): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35572275 | CAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0015others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0028 others(8): Show |
11 | 17 | 0.6471 | -5 | c.466 others(22): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35579164 | CAAAAT | C | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0002g0049 others(8): Show |
11 | 64 | 0.1719 | -5 | c.466 others(24): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35590348 | ATATTT | A | intron_variant | MODIFIER | HG03239.hp2 HG03927.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0002 | a0001c0001t0001g0038 a0003c0007t0002g0007 |
2 | 64 | 0.0313 | -5 | c.467 others(22): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35615033 | GGGGCC | G | intron_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG02717.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0052 others(11): Show |
14 | 45 | 0.3111 | -5 | c.570 others(24): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 4/16 | chr8 | TogoVar | |||||||
UNC5D_chr8_35230475_35801540 | 35738104 | CGAAAA | C | intron_variant | MODIFIER | HG01928.hp1 HG02257.hp1 HG02622.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0008a0001c0002t0013a0001c0002t0015others(4): Show | a0001c0002t0008g0045 a0001c0002t0008g0047 a0001c0002t0013g0062 others(5): Show |
8 | 64 | 0.1250 | -5 | c.176 others(24): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93458586 | TAAATC | T | intron_variant | MODIFIER | HG01081.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0043 |
2 | 192 | 0.0104 | -5 | c.23- others(20): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93558593 | ATTTTT | A | intron_variant | MODIFIER | HG02809.hp2 HG03139.hp2 HG03654.hp2 others(2): Show |
a0001a0013 | a0001c0002a0001c0016a0001c0041others(1): Show | a0001c0002t0001a0001c0016t0001a0001c0041t0001others(1): Show | a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0016t0001g0188 others(2): Show |
5 | 7 | 0.7143 | -5 | c.175 others(26): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 14/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93575400 | ATTTTT | A | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0002a0001c0009a0001c0021others(1): Show | a0001c0002t0001a0001c0009t0001a0001c0021t0001others(1): Show | a0001c0002t0001g0015 a0001c0009t0001g0191 a0001c0021t0001g0190 others(2): Show |
5 | 192 | 0.0260 | -5 | c.221 others(22): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 17/51 | chr14 | TogoVar | |||||||
UNC80_chr2_209766832_210004296 | 209788650 | TATAGA | T | intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 others(3): Show |
6 | 186 | 0.0323 | -5 | c.725 others(20): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 5/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209844443 | CTCTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02809.hp2 others(5): Show |
a0001a0014 | a0001c0007a0001c0012a0001c0015others(3): Show | a0001c0007t0001a0001c0012t0001a0001c0015t0001others(3): Show | a0001c0007t0001g0034 a0001c0007t0001g0038 a0001c0012t0001g0044 others(5): Show |
8 | 186 | 0.0430 | -5 | c.345 others(24): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 21/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209855734 | ATTAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(37): Show |
a0001a0005a0006others(4): Show | a0001c0005a0001c0006a0001c0007others(20): Show | a0001c0005t0001a0001c0005t0002a0001c0005t0007others(27): Show | a0001c0005t0001g0075 a0001c0005t0001g0108 a0001c0005t0001g0187 others(37): Show |
40 | 186 | 0.2151 | -5 | c.362 others(24): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 22/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209972921 | GCTGTA | G | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 HG02602.hp1 others(7): Show |
a0001a0009 | a0001c0006a0001c0016a0001c0022others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0016t0002others(3): Show | a0001c0006t0001g0001 a0001c0006t0001g0089 a0001c0006t0001g0090 others(7): Show |
10 | 186 | 0.0538 | -5 | c.838 others(22): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 55/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167300062 | GGAAGA | G | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0009a0003c0020others(2): Show | a0001c0001t0002a0001c0001t0005a0003c0009t0007others(3): Show | a0001c0001t0002g0097 a0001c0001t0005g0090 a0003c0009t0007g0089 others(4): Show |
8 | 446 | 0.0179 | -5 | c.625 others(22): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167310087 | AGCTAC | A | intron_variant | MODIFIER | NA18963.hp1 NA18999.hp1 NA19056.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0004a0001c0001t0005a0004c0008t0004 | a0001c0001t0004g0256 a0001c0001t0005g0164 a0001c0001t0005g0181 others(1): Show |
4 | 446 | 0.0090 | -5 | c.110 others(24): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UNC93B1_chr11_67986100_68009097 | 67987215 | GTAAAA | G | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01934.hp2 HG02055.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0024 others(7): Show |
13 | 191 | 0.0681 | -5 | c.*43 others(16): Show |
UNC93B1 | ENSG00000110057.9 | transcript | ENST00000227471.7 | protein_coding | 3884 | chr11 | TogoVar | |||||||
UNG_chr12_109092597_109115992 | 109100969 | CTTCAT | C | intron_variant | MODIFIER | HG00323.hp1 HG02258.hp2 HG02965.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0293 a0001c0001t0001g0294 others(6): Show |
13 | 450 | 0.0289 | -5 | c.436 others(20): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109101106 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00735.hp1 others(69): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0041 others(46): Show |
72 | 94 | 0.7660 | -5 | c.436 others(20): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1400417 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0051 others(52): Show |
55 | 56 | 0.9821 | -5 | c.599 others(20): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 4/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1414878 | CGCCCT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0007others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0034 others(279): Show |
284 | 309 | 0.9191 | -5 | c.-19 others(14): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 175 | chr16 | TogoVar | |||||||
UNK_chr17_75779806_75830799 | 75787531 | TAAAAG | T | intron_variant | MODIFIER | HG01106.hp2 HG02572.hp1 HG02622.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0008 a0001c0002t0001g0044 a0001c0002t0001g0046 others(12): Show |
15 | 356 | 0.0421 | -5 | c.104 others(22): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UNK_chr17_75779806_75830799 | 75802242 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(81): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 others(72): Show |
84 | 91 | 0.9231 | -5 | c.105 others(22): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UNK_chr17_75779806_75830799 | 75824051 | AGGGGT | A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(58): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0002a0001c0003t0004a0001c0007t0002 | a0001c0003t0002g0004 a0001c0003t0002g0010 a0001c0003t0002g0011 others(53): Show |
61 | 356 | 0.1713 | -5 | c.227 others(22): Show |
UNK | ENSG00000132478.10 | transcript | ENST00000589666.6 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24508881 | CAAAAG | C | intron_variant | MODIFIER | HG01070.hp1 HG02572.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0032others(1): Show | a0001c0001t0008g0015 a0001c0001t0008g0034 a0001c0001t0008g0239 others(3): Show |
7 | 350 | 0.0200 | -5 | c.365 others(22): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24509360 | TGAAAA | T | intron_variant | MODIFIER | HG01070.hp1 HG02818.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0034 a0001c0001t0008g0239 |
3 | 346 | 0.0087 | -5 | c.365 others(22): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | chr22 | TogoVar | |||||||
UPB1_chr22_24490332_24533390 | 24509361 | GAAAAA | G | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG01192.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0014a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0031others(4): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0260 others(10): Show |
16 | 73 | 0.2192 | -5 | c.365 others(22): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24515981 | TAAAAC | T | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG02056.hp2 others(39): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0011 a0001c0001t0001g0077 a0001c0001t0001g0259 others(31): Show |
42 | 349 | 0.1203 | -5 | c.791 others(20): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
UPB1_chr22_24490332_24533390 | 24528119 | AAAAAC | A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02895.hp2 HG03209.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0013a0001c0001t0044a0003c0004t0013 | a0001c0001t0013g0042 a0001c0001t0013g0228 a0001c0001t0044g0247 others(1): Show |
4 | 350 | 0.0114 | -5 | c.*23 others(16): Show |
UPB1 | ENSG00000100024.15 | transcript | ENST00000326010.10 | protein_coding | 10/10 | 2342 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
UPF3A_chr13_114276601_114310817 | 114284534 | TAAAAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01496.hp2 others(9): Show |
a0004a0011 | a0004c0004a0011c0009 | a0004c0004t0002a0004c0004t0003a0011c0009t0014 | a0004c0004t0002g0006 a0004c0004t0002g0377 a0004c0004t0002g0378 others(6): Show |
12 | 432 | 0.0278 | -5 | c.421 others(22): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
UPF3B_chrX_119829022_119857963 | 119847775 | TAATAA | T | intron_variant | MODIFIER | HG02630.hp1 HG02647.hp1 HG02723.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0022 others(8): Show |
16 | 280 | 0.0571 | -5 | c.371 others(22): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 3/10 | chrX | TogoVar | |||||||
UPK1A_chr19_35661517_35683481 | 35667304 | GTTTTT | G | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03041.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 others(2): Show |
5 | 418 | 0.0120 | -5 | c.84+ others(18): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1A_chr19_35661517_35683481 | 35667306 | TTTTTG | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01167.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0128 a0001c0001t0001g0135 others(1): Show |
5 | 129 | 0.0388 | -5 | c.84+ others(18): Show |
UPK1A | ENSG00000105668.8 | transcript | ENST00000222275.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119179805 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01070.hp2 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(32): Show |
42 | 68 | 0.6176 | -5 | c.-29 others(22): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UPK1B_chr3_119168598_119210143 | 119203340 | CAAAAA | C | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp1 HG01981.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0159 a0001c0001t0001g0180 a0001c0001t0001g0208 others(7): Show |
10 | 145 | 0.0690 | -5 | c.733 others(20): Show |
UPK1B | ENSG00000114638.8 | transcript | ENST00000264234.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |